Canonical Allele Identifier: CA380846199

Linked Data

ClinVar Variation Id: 2820519
ClinVar RCV Id: RCV003709233
dbSNP Id: rs1412750890

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.61959955T>A , CM000673.2:g.61959955T>A GRCh38
NC_000011.9:g.61727427T>A , CM000673.1:g.61727427T>A GRCh37
NC_000011.8:g.61484003T>A NCBI36
NG_009033.1:g.15072T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000378043.9:c.1012T>A (BEST1) MANE Select ENSP00000367282.4:p.Trp338Arg
ENST00000378043.8:c.1012T>A (BEST1) ENSP00000367282.4:p.Trp338Arg
ENST00000449131.6:c.832T>A (BEST1) ENSP00000399709.2:p.Trp278Arg
ENST00000524877.5:n.2643T>A (BEST1)
ENST00000524926.5:c.1215T>A (BEST1) ENSP00000432681.1:p.Thr405=
ENST00000526988.1:c.897T>A (BEST1) ENSP00000433195.1:p.Thr299=
ENST00000529191.5:c.115-28A>T (FTH1) ENSP00000431659.1:n.115-28A>T
ENST00000529631.5:c.115-51A>T (FTH1) ENSP00000431575.1:n.115-51A>T
ENST00000530019.5:c.262-51A>T (FTH1) ENSP00000433470.1:n.262-51A>T
ENST00000534553.5:c.164-2300T>A (BEST1) ENSP00000431189.1:n.164-2300T>A
NM_001139443.1:c.832T>A (BEST1) NP_001132915.1:p.Trp278Arg
NM_001300786.1:c.751T>A (BEST1) NP_001287715.1:p.Trp251Arg
NM_001300787.1:c.832T>A (BEST1) NP_001287716.1:p.Trp278Arg
NM_004183.3:c.1012T>A (BEST1) NP_004174.1:p.Trp338Arg
XM_005274210.2:c.1012T>A (BEST1) XP_005274267.1:p.Trp338Arg
XM_005274215.2:c.694T>A (BEST1) XP_005274272.1:p.Trp232Arg
XM_005274216.2:c.1035T>A (BEST1) XP_005274273.1:p.Thr345=
XM_005274218.3:c.897T>A (BEST1) XP_005274275.1:p.Thr299=
XM_005274219.2:c.867+1657T>A (BEST1) XP_005274276.1:n.867+1657T>A
XM_005274221.2:c.715-2300T>A (BEST1) XP_005274278.1:n.715-2300T>A
XM_011545229.1:c.1012T>A (BEST1) XP_011543531.1:p.Trp338Arg
XM_011545230.1:c.919T>A (BEST1) XP_011543532.1:p.Trp307Arg
XM_011545231.1:c.694T>A (BEST1) XP_011543533.1:p.Trp232Arg
XM_011545232.1:c.1215T>A (BEST1) XP_011543534.1:p.Thr405=
XM_011545233.1:c.169T>A (BEST1) XP_011543535.1:p.Trp57Arg
NM_001363591.1:c.694T>A (BEST1) NP_001350520.1:p.Trp232Arg
NM_001363592.1:c.1215T>A (BEST1) NP_001350521.1:p.Thr405=
NM_001363593.1:c.40T>A (BEST1) NP_001350522.1:p.Trp14Arg
NR_134580.1:n.1795T>A (BEST1)
XM_005274210.4:c.1012T>A (BEST1) XP_005274267.1:p.Trp338Arg
XM_005274215.4:c.694T>A (BEST1) XP_005274272.1:p.Trp232Arg
XM_005274216.4:c.1035T>A (BEST1) XP_005274273.1:p.Thr345=
XM_005274219.4:c.867+1657T>A (BEST1) XP_005274276.1:n.867+1657T>A
XM_005274221.4:c.715-2300T>A (BEST1) XP_005274278.1:n.715-2300T>A
XM_011545229.3:c.1012T>A (BEST1) XP_011543531.1:p.Trp338Arg
XM_011545230.3:c.919T>A (BEST1) XP_011543532.1:p.Trp307Arg
XM_011545233.3:c.169T>A (BEST1) XP_011543535.1:p.Trp57Arg
XM_017018230.2:c.897T>A (BEST1) XP_016873719.1:p.Thr299=
XR_001747952.2:n.1713T>A (BEST1)
XR_001747953.2:n.1557+1657T>A (BEST1)
XR_001747954.2:n.1405-2300T>A (BEST1)
NM_004183.4:c.1012T>A (BEST1) MANE Select NP_004174.1:p.Trp338Arg
NM_001139443.2:c.832T>A (BEST1) NP_001132915.1:p.Trp278Arg
NM_001300786.2:c.751T>A (BEST1) NP_001287715.1:p.Trp251Arg
NM_001300787.2:c.832T>A (BEST1) NP_001287716.1:p.Trp278Arg
NM_001363591.2:c.694T>A (BEST1) NP_001350520.1:p.Trp232Arg
NM_001363593.2:c.40T>A (BEST1) NP_001350522.1:p.Trp14Arg
NR_134580.2:n.1328T>A (BEST1)